Canonical Allele Identifier: CA362182670

Gene: GABRG2

Linked Data

• dbSNP Id: rs2113633462
• MyVariant Identifiers: chr5:g.161576288G>A (hg19) ; chr5:g.162149282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149282G>A , CM000667.2:g.162149282G>A	GRCh38
NC_000005.9:g.161576288G>A , CM000667.1:g.161576288G>A	GRCh37
NC_000005.8:g.161508866G>A	NCBI36
NG_009290.1:g.86641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1098G>A
ENST00000361925.9:c.1217G>A	ENSP00000354651.5:p.Ser406Asn
ENST00000523372.2:c.1180G>A
ENST00000638253.1:n.351G>A
ENST00000638552.1:c.812G>A	ENSP00000491763.1:p.Ser271Asn
ENST00000638660.1:c.812G>A	ENSP00000492869.1:p.Ser271Asn
ENST00000638772.1:c.1097G>A	ENSP00000491557.1:p.Ser366Asn
ENST00000638877.1:c.974G>A
ENST00000639046.1:c.488G>A	ENSP00000492659.1:p.Ser163Asn
ENST00000639111.2:c.1097G>A	ENSP00000492125.2:p.Ser366Asn
ENST00000639213.2:c.1097G>A MANE Select	ENSP00000491909.2:p.Ser366Asn
ENST00000639278.1:c.1025G>A	ENSP00000491958.1:p.Ser342Asn
ENST00000639384.1:c.1097G>A	ENSP00000491240.1:p.Ser366Asn
ENST00000639424.1:c.*297G>A	ENSP00000491245.1:n.*297G>A
ENST00000639683.1:c.1031G>A	ENSP00000492581.1:p.Ser344Asn
ENST00000639975.1:c.1031G>A	ENSP00000492096.1:p.Ser344Asn
ENST00000640500.1:n.395G>A
ENST00000640574.1:c.812G>A	ENSP00000491582.1:p.Ser271Asn
ENST00000640739.1:n.3628G>A
ENST00000640910.1:c.535G>A
ENST00000640985.1:c.1010G>A	ENSP00000492293.1:p.Ser337Asn
ENST00000641017.1:c.1097G>A	ENSP00000493461.1:p.Ser366Asn
ENST00000356592.7:c.1097G>A	ENSP00000349000.3:p.Ser366Asn
ENST00000361925.8:c.1097G>A	ENSP00000354651.4:p.Ser366Asn
ENST00000414552.6:c.1217G>A	ENSP00000410732.2:p.Ser406Asn
ENST00000522990.5:c.*699G>A	ENSP00000430732.1:n.*699G>A
ENST00000523372.1:c.1218G>A	ENSP00000430124.1:n.1218G>A
NM_000816.3:c.1097G>A	NP_000807.2:p.Ser366Asn
NM_198903.2:c.1217G>A	NP_944493.2:p.Ser406Asn
NM_198904.2:c.1097G>A	NP_944494.1:p.Ser366Asn
NM_001375339.1:c.1088G>A	NP_001362268.1:p.Ser363Asn
NM_001375340.1:c.923-2448G>A	NP_001362269.1:n.923-2448G>A
NM_001375341.1:c.1094G>A	NP_001362270.1:p.Ser365Asn
NM_001375342.1:c.1094G>A	NP_001362271.1:p.Ser365Asn
NM_001375343.1:c.1217G>A	NP_001362272.1:p.Ser406Asn
NM_001375344.1:c.1136G>A	NP_001362273.1:p.Ser379Asn
NM_001375345.1:c.1031G>A	NP_001362274.1:p.Ser344Asn
NM_001375346.1:c.1031G>A	NP_001362275.1:p.Ser344Asn
NM_001375347.1:c.1010G>A	NP_001362276.1:p.Ser337Asn
NM_001375348.1:c.677G>A	NP_001362277.1:p.Ser226Asn
NM_001375349.1:c.812G>A	NP_001362278.1:p.Ser271Asn
NM_001375350.1:c.677G>A	NP_001362279.1:p.Ser226Asn
NM_198904.3:c.1097G>A	NP_944494.1:p.Ser366Asn
NM_198904.4:c.1097G>A MANE Select	NP_944494.1:p.Ser366Asn